ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2634T>G (p.Pro878=)

gnomAD frequency: 0.02479  dbSNP: rs17027154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082936 SCV000772274 benign Combined immunodeficiency due to LRBA deficiency 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001082936 SCV000885662 benign Combined immunodeficiency due to LRBA deficiency 2023-09-13 criteria provided, single submitter clinical testing

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